Canonical Allele Identifier: CA483895007

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520570A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946434A>G , CM000675.2:g.51946434A>G	GRCh38
NC_000013.10:g.52520570A>G , CM000675.1:g.52520570A>G	GRCh37
NC_000013.9:g.51418571A>G	NCBI36
NG_008806.1:g.70061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*743T>C	ENSP00000489512.2:n.*743T>C
ENST00000673864.2:c.*1654T>C	ENSP00000501045.2:n.*1654T>C
ENST00000674147.2:c.2289T>C	ENSP00000500964.2:p.Phe763=
ENST00000242839.10:c.2910T>C MANE Select	ENSP00000242839.5:p.Phe970=
ENST00000344297.9:c.2289T>C	ENSP00000342559.5:p.Phe763=
ENST00000400366.6:c.2577T>C	ENSP00000383217.3:p.Phe859=
ENST00000448424.7:c.2658T>C	ENSP00000416738.3:p.Phe886=
ENST00000673772.1:c.2676T>C	ENSP00000501168.1:p.Phe892=
ENST00000673867.1:n.1057T>C
ENST00000674126.1:n.3273T>C
ENST00000674147.1:c.1845T>C	ENSP00000500964.1:p.Phe615=
ENST00000242839.8:c.2910T>C	ENSP00000242839.4:p.Phe970=
ENST00000344297.8:c.2289T>C	ENSP00000342559.5:p.Phe763=
ENST00000400366.5:c.2577T>C	ENSP00000383217.3:p.Phe859=
ENST00000400370.8:c.1620T>C	ENSP00000383221.3:p.Phe540=
ENST00000418097.7:c.2866-2143T>C	ENSP00000393343.2:n.2866-2143T>C
ENST00000448424.6:c.2676T>C	ENSP00000416738.2:p.Phe892=
ENST00000466629.1:n.130T>C
ENST00000634296.1:c.871T>C
ENST00000634308.1:c.*11T>C	ENSP00000489234.1:n.*11T>C
ENST00000634620.1:n.3654T>C
ENST00000634810.1:n.2255T>C
ENST00000634844.1:c.2766T>C	ENSP00000489398.1:p.Phe922=
ENST00000635406.1:n.256T>C
NM_000053.3:c.2910T>C	NP_000044.2:p.Phe970=
NM_001005918.2:c.2289T>C	NP_001005918.1:p.Phe763=
NM_001243182.1:c.2577T>C	NP_001230111.1:p.Phe859=
XM_005266423.2:c.2814T>C	XP_005266480.1:p.Phe938=
XM_005266424.3:c.2814T>C	XP_005266481.1:p.Phe938=
XM_005266427.2:c.2676T>C	XP_005266484.1:p.Phe892=
XM_005266428.1:c.2658T>C	XP_005266485.1:p.Phe886=
XM_005266430.3:c.2910T>C	XP_005266487.1:p.Phe970=
XM_005266431.2:c.2874T>C	XP_005266488.1:p.Phe958=
XM_005266432.2:c.2424T>C	XP_005266489.1:p.Phe808=
XM_006719837.2:c.2814T>C	XP_006719900.1:p.Phe938=
XM_006719838.1:c.726T>C	XP_006719901.1:p.Phe242=
XM_006719839.1:c.726T>C	XP_006719902.1:p.Phe242=
XM_011535117.1:c.2814T>C	XP_011533419.1:p.Phe938=
XM_011535118.1:c.2775T>C	XP_011533420.1:p.Phe925=
XM_011535119.1:c.2910T>C	XP_011533421.1:p.Phe970=
XM_011535120.1:c.2496T>C	XP_011533422.1:p.Phe832=
XM_011535121.1:c.2730+3573T>C	XP_011533423.1:n.2730+3573T>C
XM_011535122.1:c.1578T>C	XP_011533424.1:p.Phe526=
XR_941601.1:n.3129T>C
XR_941602.1:n.3129T>C
XR_941603.1:n.3129T>C
XR_941604.1:n.3129T>C
NM_001330578.1:c.2676T>C	NP_001317507.1:p.Phe892=
NM_001330579.1:c.2658T>C	NP_001317508.1:p.Phe886=
XM_005266424.4:c.2814T>C	XP_005266481.1:p.Phe938=
XM_005266430.4:c.2910T>C	XP_005266487.1:p.Phe970=
XM_005266431.4:c.2874T>C	XP_005266488.1:p.Phe958=
XM_006719837.3:c.2814T>C	XP_006719900.1:p.Phe938=
XM_011535117.3:c.2814T>C	XP_011533419.1:p.Phe938=
XM_017020627.1:c.2814T>C	XP_016876116.1:p.Phe938=
NM_000053.4:c.2910T>C MANE Select	NP_000044.2:p.Phe970=
NM_001005918.3:c.2289T>C	NP_001005918.1:p.Phe763=
NM_001330579.2:c.2658T>C	NP_001317508.1:p.Phe886=
NM_001243182.2:c.2577T>C	NP_001230111.1:p.Phe859=
NM_001330578.2:c.2676T>C	NP_001317507.1:p.Phe892=